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A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene
Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testin...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Pediatric Society
2010
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004491/ https://www.ncbi.nlm.nih.gov/pubmed/21189955 http://dx.doi.org/10.3345/kjp.2010.53.7.774 |